Canonical Allele Identifier: CA372448615

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657060G>T (hg19) ; chr8:g.143574890G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574890G>T , CM000670.2:g.143574890G>T	GRCh38
NC_000008.10:g.144657060G>T , CM000670.1:g.144657060G>T	GRCh37
NC_000008.9:g.144728203G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1565C>A MANE Select	ENSP00000401508.2:p.Ser522Tyr
ENST00000340490.7:c.1650C>A	ENSP00000341136.3:p.Val550=
ENST00000426292.7:c.1526C>A	ENSP00000390949.3:p.Ser509Tyr
ENST00000435154.7:c.*274C>A	ENSP00000405670.3:n.*274C>A
ENST00000449291.6:c.1565C>A	ENSP00000401508.2:p.Ser522Tyr
ENST00000460623.5:c.589C>A
ENST00000464332.5:n.1109C>A
ENST00000498076.5:n.344C>A
ENST00000529179.1:n.349C>A
NM_001286829.1:c.1526C>A	NP_001273758.1:p.Ser509Tyr
NM_145201.5:c.1565C>A	NP_660202.3:p.Ser522Tyr
XM_011517377.1:c.1302C>A	XP_011515679.1:p.Val434=
NM_001363145.1:c.1484C>A	NP_001350074.1:p.Ser495Tyr
NM_001363146.1:c.881C>A	NP_001350075.1:p.Ser294Tyr
XM_017013975.2:c.1869C>A	XP_016869464.1:p.Val623=
XM_017013976.2:c.1784C>A	XP_016869465.1:p.Ser595Tyr
XM_017013977.2:c.1569C>A	XP_016869466.1:p.Val523=
XM_017013978.2:c.1521C>A	XP_016869467.1:p.Val507=
XM_017013979.2:c.966C>A	XP_016869468.1:p.Val322=
XM_024447332.1:c.939C>A	XP_024303100.1:p.Val313=
XM_024447333.1:c.885C>A	XP_024303101.1:p.Val295=
NM_145201.6:c.1565C>A MANE Select	NP_660202.3:p.Ser522Tyr
NM_001286829.2:c.1526C>A	NP_001273758.1:p.Ser509Tyr